Overview: A rare disorder that can affect the skin, hair and teeth is called Incontinentia pigmenti. It especially affects the skin and is found in females more than males. The condition is passed down from generation to generation, but more predominate in the female X chromosome where the gene is located. It has been reported that between 900 and 1200 people have this uncommon and extremely rare condition.
Signs and symptoms: Hair loss, rash on young infants, dental abnormalities (few teeth or small teeth), and missing nails on the hands and feet. Eye issues that may lead to loss of vision and having lines or ridges on the nails.
Even though this is a rare genetic condition, it is not fatal and a person can lead a normal life.
Image result for incontinentia pigmenti symptoms
Genetics: This condition is a dominant allele and is found more within woman because they have two X chromosomes versus a a male who only has one X chromosomes; therefore, the probability of a male inheriting this condition is less likely than a female.
Distribution: Even though this is an inherited condition, there is no known place within the world that is heavily populated with this disorder.
Management and Treatment: There is no cure for this disorder and treatments varies from male to female, from person to person, depending on the severity of the condition the individual may have.
Miscellaneous: Provide an interesting fact that doesn’t fit in any of the other categories. If one knows this condition runs in their family, they may want to consult with a genetic counselor before having children.
Society and culture: How is the disorder viewed in society? Does this disorder affect the way a person is able to contribute to society? Do different cultures view this disorder differently?
History: This disorder is credited to Bruno Bloch, a Swiss Dermatologist in 1926 and Marion Sulzberger, an American Dermatologist in 1928.
Overview:
A rare disorder that can affect the skin, hair and teeth is called Incontinentia pigmenti. It especially affects the skin and is found in females more than males. The condition is passed down from generation to generation, but more predominate in the female X chromosome where the gene is located. It has been reported that between 900 and 1200 people have this uncommon and extremely rare condition.
Signs and symptoms:
Hair loss, rash on young infants, dental abnormalities (few teeth or small teeth), and missing nails on the hands and feet. Eye issues that may lead to loss of vision and having lines or ridges on the nails.
Even though this is a rare genetic condition, it is not fatal and a person can lead a normal life.
Genetics:
This condition is a dominant allele and is found more within woman because they have two X chromosomes versus a a male who only has one X chromosomes; therefore, the probability of a male inheriting this condition is less likely than a female.
Distribution:
Even though this is an inherited condition, there is no known place within the world that is heavily populated with this disorder.
Management and Treatment:
There is no cure for this disorder and treatments varies from male to female, from person to person, depending on the severity of the condition the individual may have.
Miscellaneous: Provide an interesting fact that doesn’t fit in any of the other categories.
If one knows this condition runs in their family, they may want to consult with a genetic counselor before having children.
Society and culture: How is the disorder viewed in society? Does this disorder affect the way a person is able to contribute to society? Do different cultures view this disorder differently?
History:
This disorder is credited to Bruno Bloch, a Swiss Dermatologist in 1926 and Marion Sulzberger, an American Dermatologist in 1928.
Further Research:
References:
https://medlineplus.gov/ency/article/001583.htm
https://ghr.nlm.nih.gov/condition/incontinentia-pigmenti#diagnosis
https://rarediseases.org/rare-diseases/incontinentia-pigmenti/
https://rarediseases.info.nih.gov/diseases/6778/incontinentia-pigmenti
https://en.wikipedia.org/wiki/Incontinentia_pigmenti